MutationTaster - study a chromosomal position

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input seems to be ok - now mapping the variant to the different transcripts...
found 1 transcript(s)...
Querying Taster for transcript #1: ENST00000397944
MT speed 0 s - this script 2.351624 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ADGB	polymorphism_automatic	0.00094620060452999	simple_aae				E1621D	single base exchange	rs1052444		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99905379939547 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:147136212A>TN/A show variant in all transcripts IGV

HGNC symbol

ADGB

Ensembl transcript ID

ENST00000397944

Genbank transcript ID

NM_024694

UniProt peptide

Q8N7X0

alteration type

single base exchange

alteration region

CDS

DNA changes

c.4863A>T
cDNA.4939A>T
g.216112A>T

AA changes

E1621D Score: 45 explain score(s)

position(s) of altered AA
if AA alteration in CDS

1621

frameshift

known variant

Reference ID: rs1052444

database	homozygous (T/T)	heterozygous	allele carriers
1000G	458	1109	1567
ExAC	1300	4744	6044

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.652	0.984
	-0.062	0.794
(flanking)	1.29	0.774

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	216109	wt: 0.9842 / mu: 0.9860 (marginal change - not scored)	wt: ATCCGGGAAGAGTAC mu: ATCCGGGATGAGTAC	CCGG\|gaag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1621

mutated

all conserved

1621

Ptroglodytes

all identical

ENSPTRG00000018686

1621

Mmulatta

all conserved

ENSMMUG00000013791

317

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000050994

1613

Ggallus

no homologue

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000005595

n/a

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000030052

557

protein features

start (aa)	end (aa)	feature	details
1588	1629	COILED	Potential.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

5004 / 5004

position (AA) of stopcodon in wt / mu AA sequence

1668 / 1668

position of stopcodon in wt / mu cDNA

5080 / 5080

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

77 / 77

chromosome

strand

last intron/exon boundary

4895

theoretical NMD boundary in CDS

4768

length of CDS

5004

coding sequence (CDS) position

4863

cDNA position
(for ins/del: last normal base / first normal base)

4939

gDNA position
(for ins/del: last normal base / first normal base)

216112

chromosomal position
(for ins/del: last normal base / first normal base)

147136212

original gDNA sequence snippet

AAAATTTTCGACATCCGGGAAGAGTACAGAAACAAATTGCT

altered gDNA sequence snippet

AAAATTTTCGACATCCGGGATGAGTACAGAAACAAATTGCT

original cDNA sequence snippet

AAAATTTTCGACATCCGGGAAGAGTACAGAAACAAATTGCT

altered cDNA sequence snippet

AAAATTTTCGACATCCGGGATGAGTACAGAAACAAATTGCT

wildtype AA sequence

MASKQTKKKE VHRINSAHGS DKSKDFYPFG SNVQSGSTEQ KKGKFPLWPE WSEADINSEK
WDAGKGAKEK DKTGKSPVFH FFEDPEGKIE LPPSLKIYSW KRPQDILFSQ TPVVVKNEIT
FDLFSANEHL LCSELMRWII SEIYAVWKIF NGGILSNYFK GTSGEPPLLP WKPWEHIYSL
CKAVKGHMPL FNSYGKYVVK LYWMGCWRKI TIDDFLPFDE DNNLLLPATT YEFELWPMLL
SKAIIKLANI DIHVADRREL GEFTVIHALT GWLPEVISLH PGYMDKVWEL LKEILPEFKL
SDEASSESKI AVLDSKLKEP GKEGKEGKEI KDGKEVKDVK EFKPESSLTT LKAPEKSDKV
PKEKADARDI GKKRSKDGEK EKFKFSLHGS RPSSEVQYSV QSLSDCSSAI QTSHMVVYAT
FTPLYLFENK IFSLEKMADS AEKLREYGLS HICSHPVLVT RSRSCPLVAP PKPPPLPPWK
LIRQKKETVI TDEAQELIVK KPERFLEISS PFLNYRMTPF TIPTEMHFVR SLIKKGIPPG
SDLPSVSETD ETATHSQTDL SQITKATSQG NTASQVILGK GTDEQTDFGL GDAHQSDGLN
LEREIVSQTT ATQEKSQEEL PTTNNSVSKE IWLDFEDFCV CFQNIYIFHK PSSYCLNFQK
SEFKFSEERV SYYLFVDSLK PIELLVCFSA LVRWGEYGAL TKDSPPIEPG LLTAETFSWK
SLKPGSLVLK IHTYATKATV VRLPVGRHML LFNAYSPVGH SIHICSMVSF VIGDEHVVLP
NFEPESCRFT EQSLLIMKAI GNVIANFKDK GKLSAALKDL QTAHYPVPFH DKELTAQHFR
VFHLSLWRLM KKVQITKPPP NFKFAFRAMV LDLELLNSSL EEVSLVEWLD VKYCMPTSDK
EYSAEEVAAA IKIQAMWRGT YVRLLMKARI PDTKENISVA DTLQKVWAVL EMNLEQYAVS
LLRLMFKSKC KSLESYPCYQ DEETKIAFAD YTVTYQEQPP NSWFIVFRET FLVHQDMILV
PKVYTTLPIC ILHIVNNDTM EQVPKVFQKV VPYLYTKNKK GYTFVAEAFT GDTYVAASRW
KLRLIGSSAP LPCLSRDSPC NSFAIKEIRD YYIPNDKKIL FRYSVKVLTP QPATIQVRTS
KPDAFIKLQV LENEETMVSS TGKGQAIIPA FHFLKSEKGL SSQSSKHILS FHSASKKEQE
VYVKKKAAQG IQKSPKGRAV SAIQDIGLPL VEEETTSTPT REDSSSTPLQ NYKYIIQCSV
LYNSWPLTES QLTFVQALKD LKKSNTKAYG ERHEELINLG SPDSHTISEG QKSSVTSKTT
RKGKEKSSEK EKTAKEKQAP RFEPQISTVH PQQEDPNKPY WILRLVTEHN ESELFEVKKD
TERADEIRAM KQAWETTEPG RAIKASQARL HYLSGFIKKT SDAESPPISE SQTKPKEEVE
TAARGVKEPN SKNSAGSESK EMTQTGSGSA VWKKWQLTKG LRDVAKSTSS ESGGVSSPGK
EEREQSTRKE NIQTGPRTRS PTILETSPRL IRKALEFMDL SQYVRKTDTD PLLQTDELNQ
QQAMQKAEEI HQFRQHRTRV LSIRNIDQEE RLKLKDEVLD MYKEMQDSLD EARQKIFDIR
EEYRNKLLEA EHLKLETLAA QEAAMKLETE KMTPAPDTQK KKKGKKK*

mutated AA sequence

MASKQTKKKE VHRINSAHGS DKSKDFYPFG SNVQSGSTEQ KKGKFPLWPE WSEADINSEK
WDAGKGAKEK DKTGKSPVFH FFEDPEGKIE LPPSLKIYSW KRPQDILFSQ TPVVVKNEIT
FDLFSANEHL LCSELMRWII SEIYAVWKIF NGGILSNYFK GTSGEPPLLP WKPWEHIYSL
CKAVKGHMPL FNSYGKYVVK LYWMGCWRKI TIDDFLPFDE DNNLLLPATT YEFELWPMLL
SKAIIKLANI DIHVADRREL GEFTVIHALT GWLPEVISLH PGYMDKVWEL LKEILPEFKL
SDEASSESKI AVLDSKLKEP GKEGKEGKEI KDGKEVKDVK EFKPESSLTT LKAPEKSDKV
PKEKADARDI GKKRSKDGEK EKFKFSLHGS RPSSEVQYSV QSLSDCSSAI QTSHMVVYAT
FTPLYLFENK IFSLEKMADS AEKLREYGLS HICSHPVLVT RSRSCPLVAP PKPPPLPPWK
LIRQKKETVI TDEAQELIVK KPERFLEISS PFLNYRMTPF TIPTEMHFVR SLIKKGIPPG
SDLPSVSETD ETATHSQTDL SQITKATSQG NTASQVILGK GTDEQTDFGL GDAHQSDGLN
LEREIVSQTT ATQEKSQEEL PTTNNSVSKE IWLDFEDFCV CFQNIYIFHK PSSYCLNFQK
SEFKFSEERV SYYLFVDSLK PIELLVCFSA LVRWGEYGAL TKDSPPIEPG LLTAETFSWK
SLKPGSLVLK IHTYATKATV VRLPVGRHML LFNAYSPVGH SIHICSMVSF VIGDEHVVLP
NFEPESCRFT EQSLLIMKAI GNVIANFKDK GKLSAALKDL QTAHYPVPFH DKELTAQHFR
VFHLSLWRLM KKVQITKPPP NFKFAFRAMV LDLELLNSSL EEVSLVEWLD VKYCMPTSDK
EYSAEEVAAA IKIQAMWRGT YVRLLMKARI PDTKENISVA DTLQKVWAVL EMNLEQYAVS
LLRLMFKSKC KSLESYPCYQ DEETKIAFAD YTVTYQEQPP NSWFIVFRET FLVHQDMILV
PKVYTTLPIC ILHIVNNDTM EQVPKVFQKV VPYLYTKNKK GYTFVAEAFT GDTYVAASRW
KLRLIGSSAP LPCLSRDSPC NSFAIKEIRD YYIPNDKKIL FRYSVKVLTP QPATIQVRTS
KPDAFIKLQV LENEETMVSS TGKGQAIIPA FHFLKSEKGL SSQSSKHILS FHSASKKEQE
VYVKKKAAQG IQKSPKGRAV SAIQDIGLPL VEEETTSTPT REDSSSTPLQ NYKYIIQCSV
LYNSWPLTES QLTFVQALKD LKKSNTKAYG ERHEELINLG SPDSHTISEG QKSSVTSKTT
RKGKEKSSEK EKTAKEKQAP RFEPQISTVH PQQEDPNKPY WILRLVTEHN ESELFEVKKD
TERADEIRAM KQAWETTEPG RAIKASQARL HYLSGFIKKT SDAESPPISE SQTKPKEEVE
TAARGVKEPN SKNSAGSESK EMTQTGSGSA VWKKWQLTKG LRDVAKSTSS ESGGVSSPGK
EEREQSTRKE NIQTGPRTRS PTILETSPRL IRKALEFMDL SQYVRKTDTD PLLQTDELNQ
QQAMQKAEEI HQFRQHRTRV LSIRNIDQEE RLKLKDEVLD MYKEMQDSLD EARQKIFDIR
DEYRNKLLEA EHLKLETLAA QEAAMKLETE KMTPAPDTQK KKKGKKK*

speed

0.32 s

All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

Problems